Submissions for variant NM_001999.4(FBN2):c.2427T>A (p.Ile809=)

gnomAD frequency: 0.00081  dbSNP: rs139686090

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000225712	SCV000168476	benign	not specified	2014-05-14	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga)	RCV000724447	SCV000226764	uncertain significance	not provided	2017-01-30	criteria provided, single submitter	clinical testing
Invitae	RCV000232742	SCV000287253	benign	Congenital contractural arachnodactyly	2024-01-29	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000225712	SCV000308598	likely benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002310691	SCV000317805	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2015-10-04	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Illumina Laboratory Services, Illumina	RCV000232742	SCV000452628	benign	Congenital contractural arachnodactyly	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000232742	SCV000745433	likely benign	Congenital contractural arachnodactyly	2017-06-28	criteria provided, single submitter	clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000659604	SCV000781443	likely benign	Connective tissue disorder	2016-11-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000724447	SCV000885447	likely benign	not provided	2017-08-27	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000724447	SCV002545348	benign	not provided	2022-11-01	criteria provided, single submitter	clinical testing	FBN2: BS1, BS2
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277247	SCV002565889	benign	Ehlers-Danlos syndrome	2020-12-11	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000225712	SCV004029374	benign	not specified	2023-07-21	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000232742	SCV000745937	benign	Congenital contractural arachnodactyly	2015-03-16	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000724447	SCV001929427	likely benign	not provided		no assertion criteria provided	clinical testing